Rett syndrome

genetic brain disorder

Key facts

Other names: Cerebroatrophic Hyperammonemia ( obsolete ), dementia, ataxia, and loss of purposeful hand use syndrome
Specialty: Psychiatry , clinical psychology , pediatrics , neurology
Symptoms: Impairments in language and coordination, and repetitive movements, slower growth, smaller head
Complications: Seizures , scoliosis , sleeping problems
Usual onset: After 6–18 months of age
Duration: Lifelong
Causes: Mutation in the MECP2 gene
Diagnostic method: Based on symptoms, genetic testing
Differential diagnosis: Angelman syndrome , autism , cerebral palsy , childhood disintegrative disorder , various neurodegenerative disorders
Treatment: Special education , physiotherapy , braces
Medication: Anticonvulsants

Article

Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age and almost exclusively in girls. Symptoms include impairments in language and coordination, and repetitive movements. Those affected often have slower growth, difficulty walking, and a smaller head size. Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems. The severity of the condition is variable.

Rett syndrome is due to a genetic mutation, usually in the MECP2 gene, on the X chromosome. It almost always occurs as a new mutation, with less than one percent of cases being inherited. It occurs almost exclusively in girls; boys who have a similar mutation typically die shortly after birth. Diagnosis is based on the symptoms and can be confirmed with genetic testing.